Experiments

Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).

• Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

  PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups

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  ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable

  pfm selected point-mutation-negative family dhplc bidirectional multiplex

• A universal mechanism ties genotype to phenotype in trinucleotide diseases.

  PMID 18039028 · PMC2082501 · PLoS computational biology · 2007 · 8 claims · 5 setups

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  A universal mechanism of somatic, length-dependent trinucleotide repeat expansion toward a disease-specific pathological threshold explains genotype-phenotype correlations common to trinucleotide diseases

  dominant recessive patients homozygous computer mathematical

• Sequence variation and linkage disequilibrium in the GABA transporter-1 gene (SLC6A1) in five populations: implications for pharmacogenetic research.

  PMID 17941974 · PMC2175509 · BMC genetics · 2007 · 8 claims · 7 setups

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  SLC6A1 shows low levels of LD and an absence of major LD blocks across all five populations studied

  african-american thai same study sanger snp genotyping

• A dispermic chimera with mixed field blood group B and mosaic 46,XY/47,XYY karyotype.

  PMID 17596670 · PMC2693654 · Journal of Korean medical science · 2007 · 7 claims · 7 setups

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  The propositus shows mixed-field agglutination with anti-B that mimics the B3 ABO subtype but is not caused by a B3 allele.

  propositus relatives serologic allele-specific haplotype-specific

• Duplication count distributions in DNA sequences.

  PMID 19256873 · PMC3121164 · Physical review. E, Statistical, nonlinear, and soft matter physics · 2008 · 8 claims · 8 setups

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  Duplication count distributions N(c) for complex 40-mers show power-law-like decay for c roughly 3 to 50 (or higher) across human, C. elegans, A. thaliana, and D. melanogaster genomes.

  genome elegans thaliana melanogaster genome-wide transposable homogeneous

• Accurate whole human genome sequencing using reversible terminator chemistry.

  PMID 18987734 · PMC2581791 · Nature · 2008 · 8 claims · 7 setups

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  A novel sequencing platform using fluorescent reversible terminator nucleotides on clonally amplified single-molecule DNA clusters generates several billion bases of accurate sequence per experiment at low cost.

  bac flow-sorted same yoruba reversible snp targeted

• Proteomic analysis of differential proteins in pancreatic carcinomas: Effects of MBD1 knock-down by stable RNA interference.

  PMID 18445260 · PMC2386481 · BMC cancer · 2008 · 8 claims · 5 setups

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  Stable RNAi-mediated MBD1 knock-down was successfully established in the BxPC-3 pancreatic cancer cell line using a recombinant siRNA plasmid

  bxpc-3 2-d maldi-tof-ms western

• Associations between cigarette smoking and mitochondrial DNA abnormalities in buccal cells.

  PMID 18281252 · PMC2443276 · Carcinogenesis · 2008 · 7 claims · 4 setups

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  Cigarette smoking is associated with a higher frequency of somatic mtDNA mutations in buccal cells

  buccal subject ttge real-time pcr-based

• ChimerDB 2.0--a knowledgebase for fusion genes updated.

  PMID 19906715 · PMC2808913 · Nucleic acids research · 2010 · 8 claims · 4 setups

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  ChimerDB 2.0 is an updated knowledgebase integrating fusion transcripts from GenBank transcriptome analysis with Sanger CGP, OMIM, PubMed, and Mitelman's database data.

  genbank sra pubmed transcript-to-genome ngs literature

• Nanopore long-read-only genome assembly of clinical Enterobacterales isolates is complete and accurate.

  PMID 41758556 · PMC12948150 · Microbial genomics · 2026 · 8 claims · 8 setups

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  Autocycler (consensus long-read-only assembler) circularised the most chromosomes, 95% (87/92), significantly more than Unicycler, Unicycler bold, Flye and Hybracter (hybrid)

  clinical enterobacterales assembled assembler-polisher nanopore illumina comparative

• Multi-context seeds enable fast and high-accuracy read mapping.

  PMID 41764549 · PMC13059148 · Genome biology · 2026 · 7 claims · 5 setups

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  Multi-context seeds (MCS) allow storage of seeds with different lengths in the same index structure by splitting hash bits among strobes, enabling full and partial matches

  simulated chm13 same sequence seed simulated

• Cell-free DNA methylome and fragmentome analysis for relapse monitoring of Ewing sarcoma.

  PMID 41792463 · PMC13084053 · EMBO molecular medicine · 2026 · 7 claims · 8 setups

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  Combining cfDNA methylome (EwingSign) and fragmentome analysis detects all clinically confirmed relapse events in EwS/CIC patients

  plasma cfdna t7-mbd-seq ichorcna fragment

• Water mass specific genes dominate the Southern Ocean microbiome.

  PMID 41803086 · PMC12972064 · Nature communications · 2026 · 8 claims · 8 setups

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  The Southern Ocean microbial gene catalog is highly original and largely distinct from existing marine gene catalogs

  seawater ace tara polar-specific shotgun comparative agnostos

• Dual-platform metagenomic surveillance distinguishes pathogen and resistome hotspots across agricultural and mixed-use watersheds.

  PMID 41890980 · PMC13015239 · One health (Amsterdam, Netherlands) · 2026 · 8 claims · 7 setups

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  Agricultural drainage ditches consistently harbor higher fecal-associated bacterial diversity than mixed-use or forested sites, with pronounced seasonal shifts (higher during spring/fall high-flow periods).

  surface shotgun trimmed co-assembled 16s shotgun short-read

• Transposable elements are driving rapid adaptation of Enterococcus faecium.

  PMID 42020750 · PMC13216065 · Nature · 2026 · 8 claims · 8 setups

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  E. faecium has the highest IS density among ESKAPEE pathogens, dominated by replicative ISL3 family elements

  eskapee faecium ncbi single-hospital large-scale chromosome core

• Diversity and evolution of a phase-variable multi-locus antigen in Neisseria gonorrhoeae.

  PMID 42113870 · PMC13183285 · PLoS pathogens · 2026 · 8 claims · 8 setups

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  Each N. gonorrhoeae genome has on average 7 distinct opa alleles at 9-12 opa loci

  gonorrhoeae complete opa non-gonorrhoeae long-read custom blast

• Evolution of genomic sequence inhomogeneity at mid-range scales.

  PMID 19891785 · PMC2779198 · BMC genomics · 2009 · 7 claims · 3 setups

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  MRI regions have comparable levels of de novo mutations to control genomic sequences with average base composition.

  chimpanzee population genome whole-genome snp indel

• A temporal classifier predicts histopathology state and parses acute-chronic phasing in inflammatory bowel disease patients.

  PMID 36694043 · PMC9873918 · Communications biology · 2023 · 8 claims · 8 setups

  Has reproduction · 83

  Disease-specific temporal (dynamic) gene expression and splicing signatures, distinct from fixed timepoint differential expression, can be derived from DSS and adoptive transfer colitis models to capture acute-chronic disease dynamics

  colon blood distal ibd bulk qpcr histopathology

• Developing prognostic gene panel of survival time in lung adenocarcinoma patients using machine learning.

  PMID 35117753 · PMC8799101 · Translational cancer research · 2020 · 8 claims · 5 setups

  Has reproduction · 32

  Naïve Bayes using a 22-gene panel is the best-performing and most stable machine learning model for predicting LUAD survival time (>3 vs <3 years)

  tcga geo rna-seq methylation sequencing

• EpiDiverse Toolkit: a pipeline suite for the analysis of bisulfite sequencing data in ecological plant epigenetics.

  PMID 34805989 · PMC8598301 · NAR genomics and bioinformatics · 2021 · 8 claims · 5 setups

  Has reproduction · 54

  EpiDiverse Toolkit provides Nextflow-based pipelines for WGBS mapping, methylation calling, variant calling, differential methylation, and EWAS tailored to non-model plant ecology

  populus nigra genome variant clustering